@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_head
{
this:
np:hasAssertion
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_assertion
;
np:hasProvenance
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_provenance
;
np:hasPublicationInfo
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_assertion
a
np:Assertion
.
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_provenance
a
np:Provenance
.
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNf50e4ec0faefb472178556089e0d2565
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_provenance
{
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_assertion
dcterms:description
"[To determine SMA carrier frequencies and SMN genotype distribution, we determined the copy numbers of SMN1 and SMN2 genes using the MLPA assay in 100 unrelated Korean individuals with no family history of SMA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:20197730
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP797332.RA4knwEfruiTmIX0LvucvU1NGvD1iCHaGDGkpRirB2AaU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:46+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}